Variant ID: 16-89986112-C-T

NM_002386.3(MC1R):c.446C>T;(p.Ala149Val)

This variant was identified in 1 publication




Publications:


Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology
JA Puig-Butillé, C Carrera, R Kumar, Z Garcia-Casado, C Badenas, P Aguilera, J Malvehy, E Nagore, S Puig
Publication Date: 2013-10

Variant appearance in text: MC1R: 446C>T; A149V
PubMed Link: 23647022
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.792C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.446C>T p.Ala149Val missense_variant 1/1 -
ENST00000555427.1 c.446C>T p.Ala149Val missense_variant 3/4 -
ENST00000556922.1 c.446C>T p.Ala149Val missense_variant 1/5 -
NM_002386.3 c.446C>T p.Ala149Val missense_variant 1/1 -